LOCUS       NM_004979               4718 bp    mRNA    linear   PRI 04-AUG-2024
DEFINITION  Homo sapiens potassium voltage-gated channel subfamily D member 1
            (KCND1), mRNA.
ACCESSION   NM_004979
VERSION     NM_004979.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4718)
  AUTHORS   Kalm,T., Schob,C., Voller,H., Gardeitchik,T., Gilissen,C.,
            Pfundt,R., Klockner,C., Platzer,K., Klabunde-Cherwon,A., Ries,M.,
            Syrbe,S., Beccaria,F., Madia,F., Scala,M., Zara,F., Hofstede,F.,
            Simon,M.E.H., van Jaarsveld,R.H., Oegema,R., van Gassen,K.L.I.,
            Holwerda,S.J.B., Barakat,T.S., Bouman,A., van Slegtenhorst,M.,
            Alvarez,S., Fernandez-Jaen,A., Porta,J., Accogli,A., Mancardi,M.M.,
            Striano,P., Iacomino,M., Chae,J.H., Jang,S., Kim,S.Y., Chitayat,D.,
            Mercimek-Andrews,S., Depienne,C., Kampmeier,A., Kuechler,A.,
            Surowy,H., Bertini,E.S., Radio,F.C., Mancini,C., Pizzi,S.,
            Tartaglia,M., Gauthier,L., Genevieve,D., Tharreau,M., Azoulay,N.,
            Zaks-Hoffer,G., Gilad,N.K., Orenstein,N., Bernard,G., Thiffault,I.,
            Denecke,J., Herget,T., Kortum,F., Kubisch,C., Bahring,R. and
            Kindler,S.
  TITLE     Etiological involvement of KCND1 variants in an X-linked
            neurodevelopmental disorder with variable expressivity
  JOURNAL   Am J Hum Genet 111 (6), 1206-1221 (2024)
   PUBMED   38772379
  REMARK    GeneRIF: Etiological involvement of KCND1 variants in an X-linked
            neurodevelopmental disorder with variable expressivity.
REFERENCE   2  (bases 1 to 4718)
  AUTHORS   Kim,K.R., Jeong,H.J., Kim,Y., Lee,S.Y., Kim,Y., Kim,H.J., Lee,S.H.,
            Cho,H., Kang,J.S. and Ho,W.K.
  TITLE     Calbindin regulates Kv4.1 trafficking and excitability in dentate
            granule cells via CaMKII-dependent phosphorylation
  JOURNAL   Exp Mol Med 53 (7), 1134-1147 (2021)
   PUBMED   34234278
  REMARK    GeneRIF: Calbindin regulates Kv4.1 trafficking and excitability in
            dentate granule cells via CaMKII-dependent phosphorylation.
REFERENCE   3  (bases 1 to 4718)
  AUTHORS   Sukigara,S., Dai,H., Nabatame,S., Otsuki,T., Hanai,S., Honda,R.,
            Saito,T., Nakagawa,E., Kaido,T., Sato,N., Kaneko,Y., Takahashi,A.,
            Sugai,K., Saito,Y., Sasaki,M., Goto,Y., Koizumi,S. and Itoh,M.
  TITLE     Expression of astrocyte-related receptors in cortical dysplasia
            with intractable epilepsy
  JOURNAL   J Neuropathol Exp Neurol 73 (8), 798-806 (2014)
   PUBMED   25003238
  REMARK    GeneRIF: reflected in the immunoblotting data KV4.1 receptors were
            detected at higher levels of expression in patient with cortical
            dysplasia with intractable epilepsy.
REFERENCE   4  (bases 1 to 4718)
  AUTHORS   Jerng,H.H. and Pfaffinger,P.J.
  TITLE     S-glutathionylation of an auxiliary subunit confers redox
            sensitivity to Kv4 channel inactivation
  JOURNAL   PLoS One 9 (3), e93315 (2014)
   PUBMED   24675763
  REMARK    GeneRIF: S-glutathionylation of an auxiliary subunit confers redox
            sensitivity to Kv4 channel inactivation.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4718)
  AUTHORS   Kim,H.J., Jang,S.H., Jeong,Y.A., Ryu,P.D., Kim,D.Y. and Lee,S.Y.
  TITLE     Involvement of Kv4.1 K(+) channels in gastric cancer cell
            proliferation
  JOURNAL   Biol Pharm Bull 33 (10), 1754-1757 (2010)
   PUBMED   20930388
REFERENCE   6  (bases 1 to 4718)
  AUTHORS   Jiang,B., Sun,X., Cao,K. and Wang,R.
  TITLE     Endogenous Kv channels in human embryonic kidney (HEK-293) cells
  JOURNAL   Mol Cell Biochem 238 (1-2), 69-79 (2002)
   PUBMED   12349911
REFERENCE   7  (bases 1 to 4718)
  AUTHORS   Nakamura,T.Y., Nandi,S., Pountney,D.J., Artman,M., Rudy,B. and
            Coetzee,W.A.
  TITLE     Different effects of the Ca(2+)-binding protein, KChIP1, on two Kv4
            subfamily members, Kv4.1 and Kv4.2
  JOURNAL   FEBS Lett 499 (3), 205-209 (2001)
   PUBMED   11423117
REFERENCE   8  (bases 1 to 4718)
  AUTHORS   Isbrandt,D., Leicher,T., Waldschutz,R., Zhu,X., Luhmann,U.,
            Michel,U., Sauter,K. and Pongs,O.
  TITLE     Gene structures and expression profiles of three human KCND (Kv4)
            potassium channels mediating A-type currents I(TO) and I(SA)
  JOURNAL   Genomics 64 (2), 144-154 (2000)
   PUBMED   10729221
REFERENCE   9  (bases 1 to 4718)
  AUTHORS   Kurschner,C. and Yuzaki,M.
  TITLE     Neuronal interleukin-16 (NIL-16): a dual function PDZ domain
            protein
  JOURNAL   J Neurosci 19 (18), 7770-7780 (1999)
   PUBMED   10479680
REFERENCE   10 (bases 1 to 4718)
  AUTHORS   Jerng,H.H., Shahidullah,M. and Covarrubias,M.
  TITLE     Inactivation gating of Kv4 potassium channels: molecular
            interactions involving the inner vestibule of the pore
  JOURNAL   J Gen Physiol 113 (5), 641-660 (1999)
   PUBMED   10228180
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC045659.1, AC233294.3,
            AJ005898.1 and AK094431.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_004979.5.
            
            Summary: This gene encodes a multipass membrane protein that
            comprises the pore subunit of the voltage-gated A-type potassium
            channel, which functions in the repolarization of membrane action
            potentials. Activity of voltage-gated potassium channels is
            important in a number of physiological processes, among them the
            regulation of neurotransmitter release, heart rate, insulin
            secretion, and smooth muscle contraction. [provided by RefSeq, Aug
            2013].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC045659.1, AB021865.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000218176.4/ ENSP00000218176.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-682               BC045659.1         1-682
            683-1573            AC233294.3         88666-89556         c
            1574-3294           AJ005898.1         1-1721
            3295-3295           AC233294.3         81197-81197         c
            3296-4712           AJ005898.1         1723-3139
            4713-4718           AK094431.1         3299-3304
FEATURES             Location/Qualifiers
     source          1..4718
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     gene            1..4718
                     /gene="KCND1"
                     /gene_synonym="KV4.1"
                     /note="potassium voltage-gated channel subfamily D member
                     1"
                     /db_xref="GeneID:3750"
                     /db_xref="HGNC:HGNC:6237"
                     /db_xref="MIM:300281"
     exon            1..2694
                     /gene="KCND1"
                     /gene_synonym="KV4.1"
                     /inference="alignment:Splign:2.1.0"
     CDS             1574..3517
                     /gene="KCND1"
                     /gene_synonym="KV4.1"
                     /note="Shal-type potassium channel; potassium
                     voltage-gated channel, Shal-related subfamily, member 1;
                     voltage-gated potassium channel subunit Kv4.1; potassium
                     channel, voltage gated Shal related subfamily D, member 1;
                     shal-type potassium channel KCND1"
                     /codon_start=1
                     /product="A-type voltage-gated potassium channel KCND1"
                     /protein_id="NP_004970.3"
                     /db_xref="CCDS:CCDS14314.1"
                     /db_xref="GeneID:3750"
                     /db_xref="HGNC:HGNC:6237"
                     /db_xref="MIM:300281"
                     /translation="MAAGLATWLPFARAAAVGWLPLAQQPLPPAPGVKASRGDEVLVV
                     NVSGRRFETWKNTLDRYPDTLLGSSEKEFFYDADSGEYFFDRDPDMFRHVLNFYRTGR
                     LHCPRQECIQAFDEELAFYGLVPELVGDCCLEEYRDRKKENAERLAEDEEAEQAGDGP
                     ALPAGSSLRQRLWRAFENPHTSTAALVFYYVTGFFIAVSVIANVVETIPCRGSARRSS
                     REQPCGERFPQAFFCMDTACVLIFTGEYLLRLFAAPSRCRFLRSVMSLIDVVAILPYY
                     IGLLVPKNDDVSGAFVTLRVFRVFRIFKFSRHSQGLRILGYTLKSCASELGFLLFSLT
                     MAIIIFATVMFYAEKGTNKTNFTSIPAAFWYTIVTMTTLGYGDMVPSTIAGKIFGSIC
                     SLSGVLVIALPVPVIVSNFSRIYHQNQRADKRRAQQKVRLARIRLAKSGTTNAFLQYK
                     QNGGLEDSGSGEEQALCVRNRSAFEQQHHHLLHCLEKTTCHEFTDELTFSEALGAVSP
                     GGRTSRSTSVSSQPVGPGSLLSSCCPRRAKRRAIRLANSTASVSRGSMQELDMLAGLR
                     RSHAPQSRSSLNAKPHDSLDLNCDSRDFVAAIISIPTPPANTPDESQPSSPGGGGRAG
                     STLRNSSLGTPCLFPETVKISSL"
     exon            2695..2857
                     /gene="KCND1"
                     /gene_synonym="KV4.1"
                     /inference="alignment:Splign:2.1.0"
     exon            2858..2941
                     /gene="KCND1"
                     /gene_synonym="KV4.1"
                     /inference="alignment:Splign:2.1.0"
     exon            2942..3040
                     /gene="KCND1"
                     /gene_synonym="KV4.1"
                     /inference="alignment:Splign:2.1.0"
     exon            3041..3291
                     /gene="KCND1"
                     /gene_synonym="KV4.1"
                     /inference="alignment:Splign:2.1.0"
     exon            3292..4718
                     /gene="KCND1"
                     /gene_synonym="KV4.1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4695..4700
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCND1"
                     /gene_synonym="KV4.1"
                     /note="hexamer: AATAAA"
     polyA_site      4718
                     /gene="KCND1"
                     /gene_synonym="KV4.1"
                     /note="major polyA site"
ORIGIN      
        1 agaggaggag gagaactcag gcagctctgc agagggggcc aggagctcgg gtgtttggta
       61 cccccagccc caccgctgtt gctgctcctg cagcggggac acaggtgagg acgccccgag
      121 agagaggggg agggggacca ccactagcgc tgtcctcatc cttccctggt ccagccccca
      181 cgccctaacc catcctggga tagtccccag gggtcccact ggaccttgcc cttcccaggc
      241 ctccttccag ggaccccgca ccctccccct gcctatgcca ccttctctcc tatgcctggc
      301 tgtggttgct tctcttcctc ctgctgccgc tgctgctact gccactgccc agtacacacc
      361 gccagcccct cggggtgtgg tttccccaga cctgccccca acggtgggac ccagccttct
      421 cccggcgtct cctgccagct tcctgcaaag cccaggagcc cccctccctg gagacacacc
      481 caactccctt tcaacacccc acccccctct taatcccatt ttggggttaa cccccttcct
      541 cttatttagt cttcatagat cccctgggtg ctctgggatt gtgcccaact tcctaacatt
      601 tgagtcccgg cccttggaat tccccaggcc cctttttcct ccctgtagaa ctcctgagag
      661 tgtcgaccag gctttgttgg cccgtctaga tacccacctc ccccagataa ctctcagcct
      721 ctcaaaaaat aacccagccc cctgtctacc cctttagata accccttccc ctctccagcc
      781 ctactaggag gctctggcct ctcctttctt ccccagaact cctgtagagt atagacaccc
      841 ccccgggcta ttcttggcaa ctctaggcag tcccaagaca cctttcagcc tctttacaac
      901 ctcctggatc cacagccacc cctcaagatg caccagctcc ctttccagat ccatgagggg
      961 ggtctaaccc tcttatgctt cccctagaag tcttgagggt gtggacaacc ctcctcacct
     1021 gtctcagccc ctctagaacc cccacttcca ggcactctca gtctctttca agcacctctg
     1081 gtcccatttc tacccctctg gatgccccag tctcctctcc accactgcaa aggaattcca
     1141 ggctcttctg ccttccctga gactcttgag agtgcagaga attccccacg tgtttcttgg
     1201 cccctctaga cgcccccaga cacctctcag gcacaggctg actcctttag aatcatctca
     1261 gtctctctaa accctccctc agctccttct tggccccatc cccacacccc ttttctgctc
     1321 ttctccatgt ccccaaggcc cttctcagtc cctcagaaca ttgcccaggc ccctcctagg
     1381 ttctgtaaat gtcccccaga ctccttccca tctctttagt tcttcctcct ggttcctctt
     1441 ggcctctcta gacaccccca gtttccttgt ttgggtggct caaggtgtct ccaagccccc
     1501 accatcctgg agacagccac attctcctaa acgccaccct cactaagtct ccctgggctt
     1561 ggggagtggc acgatggcgg caggcctggc cacgtggctg ccttttgctc gggcagcagc
     1621 agtgggctgg ctgcccctgg cccagcaacc cctgcccccg gcaccggggg tgaaggcatc
     1681 tcgaggagat gaggttctgg tggtgaacgt gagcggacgg cgctttgaga cttggaagaa
     1741 tacgctggac cgctacccag acaccttgct gggcagctcg gagaaggaat tcttctacga
     1801 tgctgactca ggcgagtact tcttcgatcg cgaccctgac atgttccgcc atgtgctgaa
     1861 cttctaccga acggggcggc tgcattgccc acggcaggag tgcatccagg ccttcgacga
     1921 agagctggct ttctacggcc tggttcccga gctagtcggt gactgctgcc ttgaagagta
     1981 tcgggaccga aagaaggaga atgccgagcg cctggcagag gatgaggagg cagagcaggc
     2041 cggggacggc ccagccctgc cagcaggcag ctccctgcgg cagcggctct ggcgggcctt
     2101 cgagaatcca cacacgagca ccgcagccct cgttttctac tatgtgaccg gcttcttcat
     2161 cgccgtgtcg gtcatcgcca atgtggtgga gaccatccca tgccgcggct ctgcacgcag
     2221 gtcctcaagg gagcagccct gtggcgaacg cttcccacag gcctttttct gcatggacac
     2281 agcctgtgta ctcatattca caggtgaata cctcctgcgg ctgtttgccg cccccagccg
     2341 ttgccgcttc ctgcggagtg tcatgagcct catcgacgtg gtggccatcc tgccctacta
     2401 cattgggctt ttggtgccca agaacgacga tgtctctggc gcctttgtca ccctgcgtgt
     2461 gttccgggtg tttcgcatct tcaagttctc caggcactca cagggcttga ggattctggg
     2521 ctacacactc aagagctgtg cctctgagct gggctttctc ctcttttccc taaccatggc
     2581 catcatcatc tttgccactg tcatgtttta tgctgagaag ggcacaaaca agaccaactt
     2641 tacaagcatc cctgcggcct tctggtatac cattgtcacc atgaccacgc ttggctacgg
     2701 agacatggtg cccagcacca ttgctggcaa gattttcggg tccatctgct cactcagtgg
     2761 cgtcttggtc attgccctgc ctgtgccagt cattgtgtcc aactttagcc gcatctacca
     2821 ccagaaccag cgggctgaca agcgccgagc acagcagaag gtgcgcttgg caaggatccg
     2881 attggcaaag agtggtacca ccaatgcctt cctgcagtac aagcagaatg ggggccttga
     2941 ggacagcggc agtggcgagg aacaggctct ttgtgtcagg aaccgttctg cctttgaaca
     3001 gcaacatcac cacttgctgc actgtctaga gaagacaacg tgccatgagt tcacagatga
     3061 gctcaccttc agtgaagccc tgggagccgt ctcgccgggt ggccgcacca gccgtagcac
     3121 ctctgtgtct tcccagccag tgggacccgg aagcctgctg tcttcttgct gccctcgcag
     3181 ggccaagcgc cgcgccatcc gccttgccaa ctccactgcc tcagtcagcc gtggcagcat
     3241 gcaggagctg gacatgctgg cagggctgcg caggagccat gcccctcaga gccgttccag
     3301 cctcaatgcc aagccccatg acagccttga cctgaactgc gacagccggg acttcgtggc
     3361 tgccattatc agcatcccta cccctcctgc caacacccca gatgagagcc aaccttcctc
     3421 ccctggcggc ggtggcaggg ccggcagcac cctcaggaac tccagcctgg gtaccccttg
     3481 cctcttcccc gagactgtca agatctcatc cctgtgaggg gtaggcctgc tgattcagag
     3541 ggtcctcttc atttttggga actcctttcc aaagccatat ttttgggagg cagagagggg
     3601 caggcttggg caccccttct gcccccccca ctgagaacta tgcaatggag tttcatgaaa
     3661 tggtccacat agtggggaag tagccaggaa atgagaaact tcctcccacc ccagacattt
     3721 ttcctggtgg gagctgaagc actgggcttc cacaggcccc tggcctcctt gccctagcac
     3781 actgggactg gccccactct cccagctgga ctcctgcatg ctcctcccct tgggctctca
     3841 gatgaaggca aagctttgat ccgacatctg agctctagcc taagaaggag agttgagatt
     3901 tcctcctccc tctggctggg atatggagct ttggaggttc agagaagaga accctcacct
     3961 ctgatctggc ctctacgaga ggtcctcatc tccatctggc ccaacaattc ccagattctg
     4021 aagcttggaa tgcaaacaca ggcttcatgg gctgtggcct ctgcagcgac ctgccatccc
     4081 caggccttgc ctgaggggtc aggctgcctc tcccaacaca cactcagata gcacaaattc
     4141 taccatcccc ttccctggct gctggaaatg gaccccgcaa ccctgtcctc tgctgggccc
     4201 ccagcaaact ctagcaatag cagctgctgc cgtgtcatta tgcaaagcct ctgaccagtt
     4261 tgctgcagca tttacatctg ccctaatcag aggggccacc tctaactcct cctcctcctc
     4321 tcttctcctc tggtttgcgt ccttcctggg ttgggctgga gtctggactg gctgagataa
     4381 gagcctggca accagcaaga gctgggctgt atttggagat catgggctga ttccatgttc
     4441 ttgggcaaca gtccagaagc atcaggggct ccggcctggg atgtttctga actttgggag
     4501 ttataggaga caggaggaac ttctcctcct cctcctcccc tacaattcct tttcacatat
     4561 tcctttcttc tccctcttgg gtgaccttcc aaaactctgc tctcaggctg aaatctggca
     4621 tcatctcagg ttccctgtcc ccagcactgt ccccatggag ctggtggctg acaaagatgt
     4681 agtttccatc agtcaataaa acctgagagg agagatga
//
